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PMID: 3030926 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

DNA deletions in mild and severe Becker muscular dystrophy.

Human genetics ·Vol. 75 ·No. 3 ·1987-03-00 ·Pages 281-5

Hart KA, Hodgson S, Walker A, Cole CG, Johnson L, Dubowitz V, Bobrow M

Abstract

The DNA of 33 patients diagnosed as suffering from Becker muscular dystrophy (BMD) has been probed with cloned DNA sequences from Xp21, known to reveal DNA deletions in patients suffering from the more severe Duchenne muscular dystrophy (DMD). Two BMD cases showed clear deletions. A third case gave aberrant band sizes, which further analysis showed to be caused by a small deletion. This suggests that deletions in DXS164 occur approximately as frequently in BMD as they do in DMD. Of the two cases showing large deletions, one is at the severe end of the Becker clinical spectrum, whilst the other is a classical Becker-type dystrophy. The fact that loci defined by probes commonly deleted in classical DMD patients are also deleted in BMD patients of varying severity is strong additional evidence that these disorders are allelic, and further justifies the use of probes with defined linkage relationships to DMD also being used for counselling in BMD families.

MeSH Terms

Adolescent Adult Child Chromosome Deletion DNA/genetics DNA Restriction Enzymes Genetic Linkage Genetic Markers Humans Male Muscular Dystrophies/genetics Nucleic Acid Hybridization X Chromosome

Chemicals

Genetic Markers DNA DNA Restriction Enzymes

Authors & Affiliations

7 authors, click to expand affiliations / ORCID

Hart K A

Hodgson S

Walker A

Cole C G

Johnson L

Dubowitz V

Bobrow M

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24 references, click to expand

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Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00281075

Published

1987-03-00

Pages

281-5

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00281075 View journal details

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DNA deletions in mild and severe Becker muscular dystrophy.

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